Canonical Allele Identifier: PA2573229043
Gene: OFD1 HGNC NCBI
ClinVar RCV:
RCV001877665
ClinVar Variation:
1374119
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003602.1:p.Lys37Glu
CA412331928
NM_003611.3:c.109A>G